Diagnosis & Treatment of Congenital Adrenal Hyperplasia

Last Updated on Nov 15, 2018
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How do you Diagnose Congenital Adrenal Hyperplasia (CAH)?

Congenital Adrenal Hyperplasia (CAH) can be diagnosed in the following ways:

  • Physical Examination: A thorough physical examination of the genitals in babies will reveal any abnormalities, such as ambiguous genitalia. Abnormalities like this are observed in the classic form of CAH. The symptoms of the non-classic form of CAH do not appear till late childhood or even early adulthood. These cases can also be diagnosed by physical examination.
  • X-Ray: An X-ray can reveal any abnormalities in the bones of children. This is useful since CAH can cause bones to grow and develop faster than in normal children, which results in premature aging of the bones.
  • Blood / Urine Tests: These tests can detect any abnormalities in the levels of hormones like cortisol, aldosterone and 17α-hydroxyprogesterone.
  • Biochemistry Tests: These include measurement of sodium and potassium levels. Sodium maybe low and potassium may be high.
  • Genetic Testing: This is the confirmatory test for CAH. It is the most sensitive and accurate test currently available for diagnosing this condition. This test can be carried out for screening of newborns for CAH. Deficiency of enzymes like 21-hydroxylase and mutations in the corresponding gene (CYP21A2) can unequivocally confirm CAH.

How can you Treat Congenital Adrenal Hyperplasia (CAH)?

Treatment options can vary between individuals and depend on several factors including type of CAH and the associated symptoms and signs.

Steroids are Administered to Normalize the Hormone Levels

In most cases, steroids are administered in order to replenish the low levels of hormones. Sometimes, surgery may also be required. Some of these approaches are briefly highlighted below:

  • Glucocorticoids: These steroids are administered to reduce hyperplasia and suppress the overproduction of androgens by the adrenal glands.
  • Mineralocorticoids: These steroids are administered to restore electrolyte balance and plasma renin activity.
  • Sex Hormones: If there is a deficiency in sex hormones at puberty, testosterone or estrogen may need to be administered as required.
  • Surgery:

    Surgery is recommended to correct any visible anomalies. For example, girls with classic CAH who are born with ambiguous genitalia may require surgical intervention to correct the functionality and appearance of the external genitalia to make it more female-like.

References:

  1. Congenital Adrenal Hyperplasia - Genetic and Rare Diseases Information Center (GARD), National Center for Advancing Translational Sciences, National Institutes of Health (NIH), USA - (https://rarediseases.info.nih.gov/diseases/1467/congenital-adrenal-hyperplasia)
  2. Merke D, Kabbani M. Congenital adrenal hyperplasia: epidemiology, management and practical drug treatment. Paediatr Drugs. 2001; 3(8): 599-611. PMID: 11577925. - (https://www.ncbi.nlm.nih.gov/pubmed/11577925)

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